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INTRODUCTION

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  • Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of disorders characterized by anemia, ineffective erythropoiesis with specific morphological alterations of erythroid precursors in the marrow, and iron overload.

  • Although rare, uncovering the molecular basis of CDA has helped unravel novel aspects of the cell biology of erythropoiesis.

  • Three classical types of CDA have been distinguished. However, some patients with phenotype of CDA do not fit into any of these categories.

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CDA TYPE I

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Clinical and Laboratory Features

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  • The condition presents in infancy or adolescence.

  • Autosomal recessive inheritance is caused by mutations in the CDAN1 gene, encoding codanin-1, a cell cycle–regulated protein involved in the histone assembly; homozygosity is often associated with consanguinity. In a number of patients, only one or no CDAN1 mutated allele is identified; other causative genes, such as C15ORF41, are suspected.

  • Moderately severe macrocytic anemia (approximately 9.0 g/dL) occurs.

  • Hepatomegaly and cholelithiasis are common.

  • Splenomegaly increases with age.

  • Specific morphologic findings of CDA type I are summarized in Table 7–1 and exemplified in Figure 7–1.

  • Dysmorphic skeletal features may be present, typically affecting hands and feet. Less common are small stature, almond-shaped blue eyes, hypertelorism, and micrognathia.

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Table Graphic Jump Location
TABLE 7–1CARDINAL FEATURES OF TYPES I, II, AND III CONGENITAL DYSERYTHROPOIETIC ANEMIAS (CDAS)
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FIGURE 7–1

Light microscopy of marrow. A. Congenital dyserythropoietic anemia type I. The internuclear unusually long chromatin bridge is marked by an arrow. B. Congenital dyserythropoietic anemia type II. The two arrows point to binucleate erythroblasts, characteristic of this type. (Used with permission from Dr. Odile Fenneteau.)

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Differential Diagnosis

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  • The condition may be confused with the thalassemias (see Chap. 15).

  • Megaloblastoid marrow morphology may suggest folic acid or vitamin B12 deficiency (see Chap. 8).

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Treatment

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  • Severe forms may present ...

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